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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hereditary spastic paraplegia 61
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Accession:DOID:0110812 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. (DO)
Synonyms:exact_synonym: SPG61;   autosomal recessive spastic paraplegia 61;   autosomal recessive spastic paraplegia type 61;   spastic paraplegia-61
 primary_id: OMIM:615685
 xref: ORDO:401780


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hereditary spastic paraplegia 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARL6IP1 ADP ribosylation factor like GTPase 6 interacting protein 1 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 61 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24482476 PMID:25741868 More... NCBI chr 3:26,759,365...26,770,325
Ensembl chr 3:26,653,979...26,770,322 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          paraplegia 561
            hereditary spastic paraplegia 441
              hereditary spastic paraplegia 61 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      nervous system disease 12962
        central nervous system disease 11612
          neurodegenerative disease 4656
            Nervous System Heredodegenerative Disorders 3192
              motor peripheral neuropathy 1185
                hereditary spastic paraplegia 441
                  hereditary spastic paraplegia 61 1
paths to the root